ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q29(chr3:195419168-197387258)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
19 | 123 | |
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 147 | |
CEP19 | - | - |
GRCh38 GRCh37 |
105 | 204 | |
DLG1 | - | - |
GRCh38 GRCh37 |
66 | 172 | |
DYNLT2B | - | - |
GRCh38 GRCh37 |
32 | 166 | |
FBXO45 | - | - |
GRCh38 GRCh37 |
5 | 108 | |
MELTF | - | - |
GRCh38 GRCh37 |
12 | 114 | |
MIR570 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 51 | |
MUC20 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
6 | 60 | |
MUC4 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
149 | 218 |
There are 16 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2020 | RCV001291957.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2023